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. Author manuscript; available in PMC: 2025 Sep 1.
Published in final edited form as: Bone. 2024 May 26;186:117136. doi: 10.1016/j.bone.2024.117136

Table 3: Comparison of the relative catalytic velocities of ENPP1 variants with prior studies.

The relative catalytic velocities determined herein (Ansh activity) are listed compared with prior studies. There is good concordance with prior measurements with two exceptions: L611V and R481W. See text for discussion.

Pathogenic Variant Ansh activity Prior activity 1 Ref. activiy 1 Prior activity 2 Ref. activity 2
C126R 0% 3% [52]
K173Q 63% 66% [47] 83% [52]
C195R 0% 0% [47]
Y301C 49% 0% [47]
P305T 4% 0% [47]
R456Q 2% 11% [52]
Y471C 33% 43% [52]
R481W 68% 37% [52]
S504R 8% 51% [47]
L579F 0% 0% [52]
L611V 111% 0% [52]
Y659C 11% 41% [47]
E668K 74% 100% [47] 70% [52]
R774C 26% 57% [47] 36% [52]
H777R 9% 38% [47]
N792S 26% 17% [52]
R821H 107% 88% [47]
R888W 4% 0% [47]
K905fsX15 0% 0% [52]